List of rare diseases starting with A
This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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2 Ae-Ah 3 Ai-Al 4 Am-Ap 5 Aq-At 6 Au-Az |
Aa-Ad
- Aagenaes syndrome
- Aarskog Ose Pande syndrome
- Aarskog syndrome
- Aase Smith syndrome
- Aase syndrome
- ABCD syndrome
- Abdallat Davis Farrage syndrome
- Abdominal aortic aneurysm
- Abdominal cystic lymphangioma
- Abdominal defects
- Abdominal musculature absent microphthalmia joint laxity
- Abdominal neoplasms
- Aberrant subclavian artery
- Ablepharon macrostomia syndrome
- Ablutophobia
- Abnormal systemic venous return
- Abruzzo Erickson syndrome
- Absence of Gluteal muscle
- Absence of tibia with polydactyly
- Absent corpus callosum cataract immunodeficiency
- Absent T lymphocytes
- Acalvaria
- Acanthocheilonemiasis
- Acanthocytosis chorea
- Acanthocytosis
- Acanthosis nigricans muscle cramps acral enlargement
- Acarophobia
- Acatalasemia
- Accessory deep peroneal nerve
- Accessory Navicular bone
- Accessory pancreas
- Achalasia alacrimia syndrome
- Achalasia microcephaly
- Achalasia, familial esophageal
- Achalasia
- Achalasia-Addisonianism-Alacrimia syndrome
- Achard syndrome
- Achard-Thiers syndrome
- Acheiropodia
- Achondrogenesis Kozlowski type
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Achondrogenesis
- Achondroplasia Swiss type agammaglobulinemia
- Achondroplasia
- Achondroplastic dwarfism
- Achromatopsia incomplete, X-linked
- Achromatopsia
- Acid maltase deficiency
- Acidemia, isovaleric
- Acidemia, propionic
- Acitretine antenatal infection
- Ackerman syndrome
- Acne rosacea
- Acoustic neuroma
- Acoustic schwannomas
- Acquired agranulocytosis
- Acquired hypoprothrombinemia
- Acquired ichthyosis
- Acquired prothrombin deficiency
- Acquired syphilis
- Acral dysostosis dyserythropoiesis
- Acral renal mandibular syndrome
- Acro coxo mesomelic dysplasia
- Acro fronto facio nasal dysostosis
- Acrocallosal syndrome, Schinzel type
- Acrocephalopolydactyly
- Acrocephalosyndactyly Jackson Weiss type
- Acrocephaly pulmonary stenosis mental retardation
- Acrodermatitis enteropathica
- Acrodermatitis
- Acrodysostosis
- Acrodysplasia scoliosis
- Acrofacial dysostosis ambiguous genitalia
- Acrofacial dysostosis atypical postaxial
- Acrofacial dysostosis Catania form
- Acrofacial dysostosis Preis type
- Acrofacial dysostosis Rodriguez type
- Acrofacial dysostosis Weyers type
- Acrofacial dysostosis, Nager type
- Acrofacial dysostosis, Palagonia type
- Acrokeratoelastoidosis of Costa
- Acromegaloid changes cutis verticis gyrata corneal
- Acromegaloid facial appearance syndrome
- Acromegaloid hypertrichosis syndrome
- Acromegaly
- Acromesomelic dysplasia Brahimi Bacha type
- Acromesomelic dysplasia Campailla Martinelli type
- Acromesomelic dysplasia Hunter Thompson type
- Acromesomelic dysplasia, Maroteaux type
- Acromesomelic dysplasia
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acroosteolysis neurogenic
- Acroosteolysis osteoporosis skull and mandible changes
- Acropectoral syndrome
- Acropectorenal field defect
- Acropectorovertebral dysplasia
- Acrophobia
- Acropigmentation of Dohi
- Acrorenal syndrome recessive
- Acrorenoocular syndrome
- Acrospiroma
- ACTH deficiency
- ACTH resistance
- Actinomycetales infection
- Activated protein C resistance
- Acutane embryopathy
- Acute articular rheumatism
- Acute erythroblastic leukemia
- Acute febrile neutrophilic dermatosis
- Acute idiopathic polyneuritis
- Acute intermittent porphyria
- Acute lymphoblastic leukemia congenital sporadic aniridia
- Acute lymphoblastic leukemia
- Acute lymphocytic leukemia
- Acute megakaryoblastic leukemia
- Acute monoblastic leukemia
- Acute mountain sickness
- Acute myeloblastic leukemia type 1
- Acute myeloblastic leukemia type 2
- Acute myeloblastic leukemia type 3
- Acute myeloblastic leukemia type 4
- Acute myeloblastic leukemia type 5
- Acute myeloblastic leukemia type 6
- Acute myeloblastic leukemia type 7
- Acute myeloblastic leukemia with maturation
- Acute myeloblastic leukemia without maturation
- Acute myelocytic leukemia
- Acute myelogenous leukemia
- Acute myeloid leukemia (generic term)
- Acute myeloid leukemia, secondary
- Acute myelomonocytic leukemia
- Acute necrotizing ulcerative gingivitis
- Acute non lymphoblastic leukemia (generic term)
- Acute posterior multifocal placoid pigment epitheliopathy
- Acute promyelocytic leukemia
- Acute renal failure
- Acyl-CoA dehydrogenase, medium chain, deficiency of
- Acyl-CoA dehydrogenase, short chain, deficiency of
- Acyl-CoA dehydrogenase, very long chain, deficiency of
- Acyl-CoA oxidase deficiency
- Adactylia unilateral dominant
- Adam complex familial
- Adams Nance syndrome
- Adams-Oliver syndrome
- Addison's disease
- Adducted thumb club foot syndrome
- Adducted thumb syndrome recessive form
- Adducted thumbs Dundar type
- Adenine phosphoribosyltransferase deficiency
- Adenocarcinoid tumor
- Adenocarcinoma of lung
- Adenoid cystic carcinoma
- Adenoma of the adrenal gland
- Adenoma
- Adenomelablastoma
- Adenomyosis
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase deficiency
- Adenosine triphosphatase deficiency, anemia due to
- Adenylosuccinate lyase deficiency
- Adie syndrome
- Adiposa dolorosa
- Adolescent benign focal crisis
- Adrenal adenoma, familial
- Adrenal cancer
- Adrenal disorder
- Adrenal gland hyperfunction
- Adrenal gland hypofunction
- Adrenal hyperplasia, congenital
- Adrenal hyperplasia
- Adrenal hypertension
- Adrenal hypoplasia congenital, X-linked
- Adrenal hypoplasia
- Adrenal incidentaloma
- Adrenal insufficiency
- Adrenal macropolyadenomatosis
- Adrenal medulla neoplasm
- Adrenocortical carcinoma
- Adrenogenital syndrome
- Adrenoleukodystrophy, autosomal, neonatal form
- Adrenoleukodystrophy, X-linked
- Adrenoleukodystrophy
- Adrenomyodystrophy
- Adult onset Still's disease
- Adult spinal muscular atrophy
- Adult syndrome
Ae-Ah
- Aerophobia
- Afibrinogenemia
- Aganglionosis, total intestinal
- Aggressive fibromatosis
- Agnathia holoprosencephaly situs inversus
- Agnosia, primary visual
- Agoraphobia
- Agrizoophobia
- Agyria pachygyria polymicrogyria
- Agyria-pachygyria type 1
- Agyrophobia
- Ahumada-Del Castillo syndrome
Ai-Al
- Aicardi syndrome
- Aicardi-Goutieres syndrome
- Aichmophobia
- AIDS Dementia Complex
- AIDS dysmorphic syndrome
- Ainhumoid and mutilating keratodermia
- Akaba Hayasaka syndrome
- Akesson syndrome
- Aksu Stckhausen syndrome
- Al Awadi Teebi Farag syndrome
- Al Frayh Facharzt Haque syndrome
- Al Gazali Al Talabani syndrome
- Al Gazali Aziz Salem syndrome
- Al Gazali Donnai Mueller syndrome
- Al Gazali Hirschsprung syndrome
- Al Gazali Khidr Prem Chandran syndrome
- Al Gazali Sabrinathan Nair syndrome
- Alagille-Watson syndrome (AWS)
- Alar nasal cartilages coloboma of telecanthus
- Albers-Schonberg disease
- Albinism deafness syndrome
- Albinism immunodeficiency
- Albinism ocular late onset sensorineural deafness
- Albinism oculocutaneous, Hermansky-Pudlak type
- Albinism, minimal pigment type
- Albinism, ocular
- Albinism, yellow mutant type
- Albinism
- Albinoidism
- Albrecht Schneider Belmont syndrome
- Albright like syndrome
- Albright Turner Morgani syndrome
- Albright's hereditary osteodystrophy
- Albright's syndrome
- Albuminurophobia
- Alcaptonuria
- Alcohol antenatal infection
- Alcohol fetopathy
- Alcoholic hepatitis
- Alcoholic liver cirrhosis
- Aldolase A deficiency
- Aldred syndrome
- Alektorophobia
- Aleukemic leukemia cutis
- Alexander's disease
- Alkaptonuria
- Allain Babin Demarquez syndrome
- Allan Herndon syndrome
- Allanson Pantzar McLeod syndrome
- Allergic angiitis
- Allergic autoimmune thyroiditis
- Allergic bronchopulmonary aspergillosis
- Allergic encephalomyelitis
- Alliumphobia
- Allodoxaphobia
- Aloi Tomasini Isaia syndrome
- Alopecia anosmia deafness hypogonadism syndrome
- Alopecia areata
- Alopecia congenita keratosis palmoplantaris
- Alopecia contractures dwarfism mental retardation
- Alopecia epilepsy oligophrenia syndrome of Moynahan
- Alopecia hypogonadism extrapyramidal disorder
- Alopecia immunodeficiency
- Alopecia macular degeneration growth retardation
- Alopecia mental retardation hypogonadism
- Alopecia mental retardation syndrome
- Alopecia totalis
- Alopecia universalis onychodystrophy vitiligo
- Alopecia universalis
- Alopecia, epilepsy, pyorrhea, mental subnormality
- Alopecia
- Alpers disease
- Alpha 1-antitrypsin deficiency
- Alpha-2 deficient collagen disease
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-L-iduronidase deficiency
- Alpha-mannosidosis
- Alpha-sarcoglycanopathy
- Alpha-thalassemia
- Alpha-thalassemia-abnormal morphogenesis
- Alport syndrome macrothrombocytopenia
- Alport syndrome, dominant type
- Alport syndrome, recessive type
- Alport syndrome
- Alstrom's syndrome
- Alternating hemiplegia of childhood
- Alternating hemiplegia
- Aluminium lung
- Alveolar echinococcosis
- Alveolar soft part sarcoma
- Alveolitis, extrinsic allergic
- Alves Dos Santos Castello syndrome
- Alzheimer disease, familial
- Alzheimer's disease
Am-Ap
- Amathophobia
- Amaurosis congenita of Leber, type 1
- Amaurosis congenita of Leber, type 2
- Amaurosis congenita of Leber
- Amaurosis hypertrichosis
- Amaxophobia
- Ambral syndrome
- Ambras syndrome
- Ambulophobia
- Amegakaryocytic thrombocytopenia
- Amelia cleft lip palate hydrocephalus iris coloboma
- Amelia facial dysmorphism
- Amelia X linked
- Amelogenesis Imperfecta hypomaturation type
- Amelogenesis imperfecta local hypoplastic form
- Amelogenesis imperfecta nephrocalcinosis
- Amelogenesis imperfecta
- Ameloonychohypohidrotic syndrome
- Amenorrhea, Primary
- American trypanosomiasis
- Aminoacidopathies
- Aminoaciduria
- Aminopterin antenatal infection
- Aminopterin like syndrome without aminopterin
- Amniotic bands
- Amoebiasis due to Entamoeba histolytica
- Amoebiasis due to free-living amoebae
- Ampola syndrome
- Amychophobia
- Amylo-1,6-glucosidase deficiency
- Amyloid angiopathy
- Amyloid Neuropathies, Familial
- Amyloid polyneuropathy, transthyretin related
- Amyloidosis of gingiva and conjunctiva mental retardation
- Amyloidosis, Familial
- Amyloidosis
- Amylopectinosis
- Amyoplasia mandibulofacial dysostosis
- Amyoplasia
- Amyotonia congenita
- Amyotrophic lateral sclerosis
- Anablephobia
- Anaphylaxis
- Anaplastic thyroid cancer
- Andersen's disease
- Andre syndrome
- Androgen insensitivity syndrome (AIS)
- Anemia sideroblastic spinocerebellar ataxia
- Anemia, Diamond-Blackfan
- Anemia, Hypoplastic, Congenital
- Anemia, Pernicious
- Anemia, Sideroblastic
- Anemia
- Anemophobia
- Anencephaly spina bifida X linked
- Anencephaly
- Aneurysm of sinus of Valsalva
- Aneurysm, intracranial berry
- Aneurysm
- Angel shaped phalangoepiphyseal dysplasia
- Angelman syndrome
- Angiofollicular ganglionic hyperplasia
- Angiofollicular lymph hyperplasia
- Angioimmunoblastic with dysproteinemia lymphadenopathy
- Angiokeratoma mental retardation coarse face
- Angiolipoma
- Angioma hereditary neurocutaneous
- Angiomatosis encephalotrigeminal
- Angiomatosis leptomeningeal capillary - venous
- Angiomatosis systemic cystic Seip syndrome
- Angiomyomatous Hamartoma
- Angioneurotic edema hereditary due to C1 esterase deficiency
- Angiosarcoma of the liver
- Angiosarcoma of the scalp
- Angiostrongyliasis
- Angiotensin renin aldosterone hypertension
- Anguillulosis
- Aniridia absent patella
- Aniridia ataxia renal agenesis psychomotor retardation
- Aniridia cerebellar ataxia mental deficiency
- Aniridia mental retardation syndrome
- Aniridia ptosis mental retardation obesity familial
- Aniridia renal agenesis psychomotor retardation
- Aniridia type 2
- Aniridia, sporadic
- Aniridia
- Anisakiasis
- Ankle defects short stature
- Ankyloblepharon ectodermal defects cleft lip palate
- Ankyloblepharon filiforme adnatum cleft palate
- Ankyloblepharon filiforme imperforate anus
- Ankyloglossia heterochromia clasped thumbs
- Ankylosing spondylarthritis
- Ankylosing spondylitis
- Ankylosing vertebral hyperostosis with tylosis
- Ankylosis of teeth
- Ankylostomiasis
- Annular constricting bands
- Annular pancreas
- Annuloaortic ectasia
- Anodontia
- Anonychia ectrodactyly
- Anonychia microcephaly
- Anonychia onychodystrophy brachydactyly type B
- Anonychia onychodystrophy
- Anophthalia pulmonary hypoplasia
- Anophthalmia cleft lip palate hypothalamic disorder
- Anophthalmia cleft palate micrognathia
- Anophthalmia esophageal atresia cryptorchidism
- Anophthalmia megalocornea cardiopathy skeletal anomalies
- Anophthalmia microcephaly hypogonadism
- Anophthalmia plus syndrome
- Anophthalmia short stature obesity
- Anophthalmia Waardenburg syndrome
- Anophthalmos with limb anomalies
- Anophthalmos, clinical
- Anorchia
- Anorchidism
- Anorectal anomalies
- Ano-rectal atresia
- Anorexia nervosa
- Anosmia
- Anotia facial palsy cardiac defect
- Anotia
- Ansell Bywaters Elderking syndrome
- Anterior horn disease
- Anterior pituitary insufficiency, familial
- Anthophobia
- Anthrax
- Anti-factor VIII autoimmunization
- Antigen-peptide-transporter 2 deficiency
- Anti-HLA hyperimmunization
- Antihypertensive drugs antenatal infection
- Antinolo Nieto Borrego syndrome
- Antiphospholipid syndrome
- Anti-plasmin deficiency, congenital
- Antisocial personality disorder
- Antisynthetase syndrome
- Antithrombin deficiency, congenital
- Antley-Bixler syndrome
- Antlophobia
- Anton's syndrome
- Aorta-pulmonary artery fistula
- Aortic aneurysm
- Aortic arch anomaly peculiar facies mental retardation
- Aortic arch interruption
- Aortic arches defect
- Aortic coarctation
- Aortic dissection lentiginosis
- Aortic supravalvular stenosis
- Aortic valve stenosis
- Aortic valves stenosis of the child
- Aortic window
- Apert like polydactyly syndrome
- Apert syndrome
- Aphalangia hemivertebrae
- Aphalangia syndactyly microcephaly
- Aphthous stomatitis
- Apiphobia
- Aplasia cutis autosomal recessive
- Aplasia cutis congenita dominant
- Aplasia cutis congenita epibulbar dermoids
- Aplasia cutis congenita intestinal lymphangiectasia
- Aplasia cutis congenita of limbs recessive
- Aplasia cutis congenita recessive
- Aplasia cutis congenita
- Aplasia cutis myopia
- Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
- Aplastic anemia
- Apo A-I deficiency
- Apolipoprotein C-II deficiency
- Apparent mineralocorticoid excess
- Apraxia manual
- Apraxia, Ideomotor
- Apraxia, ocular motor, Cogan type
- Apraxia
- Apudoma
Aq-At
- Aqueductal stenosis, X linked
- Arachindonic acid, absence of
- Arachnodactyly ataxia cataract aminoaciduria mental retardation
- Arachnodactyly mental retardation dysmorphism
- Arachnoid cysts
- Arachnoiditis
- Arakawa'sa syndrome II
- Arbovirosis
- Arc syndrome
- Aredyld syndrome
- AREDYLD
- Arginase deficiency
- Arginemia
- Argininosuccinate synthetase deficiency
- Argininosuccinic aciduria
- Arhinia choanal atresia microphthalmia
- Arnold Stckler Bourne syndrome
- Arnold-Chiari malformation
- Arnold-Chiari syndrome
- Aromatase deficiency
- Aromatic amino acid decarboxylase deficiency
- Arrhinia
- Arrhythmogenic right ventricular dysplasia
- Arroyo Garcia Cimadevilla syndrome
- Arrythmogenic right ventricular dysplasia, familial
- Arterial calcification of infancy
- Arterial dysplasia
- Arterial tortuosity
- Arteriovenous malformation
- Arteritis
- Arthritis short stature deafness
- Arthritis, Juvenile
- Arthritis
- Arthrogryposis due to muscular dystrophy
- Arthrogryposis ectodermal dysplasia other anomalies
- Arthrogryposis epileptic seizures migrational brain disorder
- Arthrogryposis IUGR thoracic dystrophy
- Arthrogryposis like disorder
- Arthrogryposis like hand anomaly sensorineural
- Arthrogryposis multiplex congenita CNS calcification
- Arthrogryposis multiplex congenita distal
- Arthrogryposis multiplex congenita neurogenic type
- Arthrogryposis multiplex congenita pulmonary hypoplasia
- Arthrogryposis multiplex congenita whistling face
- Arthrogryposis multiplex congenita, distal type 1
- Arthrogryposis multiplex congenita, distal type 2
- Arthrogryposis multiplex congenita, distal, x-linked
- Arthrogryposis multiplex congenita
- Arthrogryposis ophthalmoplegia retinopathy
- Arthrogryposis renal dysfunction cholestasis syndrome
- Arthrogryposis spinal muscular atrophy
- Arthrogryposis
- Arylsulfatase A deficiency
- Asbestosis
- Ascher's Syndrome
- Asherman's syndrome
- Aspartylglycosaminuria
- Asperger syndrome
- Aspergillosis
- Asphyxia neonatorum
- Asthenia
- Asthenophobia
- Asthma
- Astrocytoma
- Asymmetric septal hypertrophy
- Ataxia telangiectasia variant V1
- Ataxia telangiectasia
- Ataxia, Marie's
- Ataxiophobia
- Ataxophobia
- Atelosteogenesis, type II
- Athabaskan brain stem dysgenesis
- Athetosis
- Atopic Dermatitis
- Atresia of small intestine
- Atrial myxoma, familial
- Atrial septal defects
- Atrioventricular septal defect
- Atrophoderma of Pierini and Pasini
- ATR-X
- Attention Deficit Disorder with Hyperactivity
- Attenuated FAP
- Atychiphobia
- Atypical lipodystrophy
Au-Az
- Auditory Perceptual Disorder
- Aughton syndrome
- Ausems Wittebol Post Hennekam syndrome
- Autism
- Autoimmune hemolytic anemia
- Autoimmune hepatitis
- Autoimmune peripheral neuropathy
- Autoimmune polyendocrinopathy syndrome, type I
- Automysophobia
- Autonomic dysfunction
- Autonomic nervous system diseases
- Axial mesodermal dysplasia spectrum
- Axial osteomalacia
- Axial osteosclerosis
- Ayazi syndrome
